University of Utah scientist Mario R. Capecchi has won the 2007 Nobel Prize in Medicine, an honor he shares with two other scientists for work manipulating mouse genes to study disease.
Capecchi, 70, pioneered a technique to "knock-out" specific mice genes.
Capecchi, distinguished professor of human genetics and biology at the U.'s Eccles Institute of Human Genetics and a Howard Hughes Medical Institute investigator, shares the award with Oliver Smithies of the University of North Carolina and Sir Martin Evans at the University of Cardiff in Wales.
A visibly moved Capecchi waved the audience to sit down after they gave him a second standing ovation at a news conference the U. called in his honor Monday morning. "You'll embarrass me," he smiled.
He said his wife, Laurie Fraser, nearly didn't answer the phone when it rang at 3 a.m. because the ring sounded funny. He would have missed the call from the secretary of the Nobel Committee. "He had a very serious voice, so I took it seriously," he joked.
"This is one of the proudest days in the history of the University of Utah," said Dr. Lorris A. Betz, vice president over the health sciences. "It is the ultimate honor in medicine."
"Gene targeting truly changed the course of medical research," said U. President Michael K. Young. "It has brought hope ... to millions of people worldwide."
The award is just one more example, Young said, of Capecchi's "life that reflects passion to do good in the world."
That passion to do good is perhaps more striking because Capecchi's childhood came at a time when much was bad in the world. He was born Oct. 6, 1937, in Verona, Italy, the son of an American-born, "quite remarkable" poet, Lucy Ramberg, and an Italian airman.
An instructor at the Sorbonne, Ramberg had joined a group of literary elite called the Bohemians "who thought they could wipe out fascism and Nazism with a pen." They wrote and distributed pamphlets, and Adolf Hitler's forces started rounding them up to send to concentration camps.
She sold her belongings and gave the money to a neighbor so he could take care of Mario, who was a toddler. She was shipped to Dachau. The money lasted for a year and, at age 4 1/2, the boy was turned free to survive however he could.
In spring of 1945, Dachau was liberated and Ramberg was one of the few survivors. It took her nearly 18 months to find her son, who was in desperate condition in a hospital. She found him on his ninth birthday, and shortly after they returned to America, where he had to learn the language and many basic niceties, before embarking on a long and distinguished journey through science.
Capecchi earned his bachelor's degree in chemistry and physics from Antioch College and his doctorate in biophysics from Harvard, where he completed his thesis work under the guiding hand of Nobel laureate James D. Watson, who with France Crick determined the structure of DNA. He was an associate professor of biochemistry at Harvard when he left to join the U. faculty in 1973, wooed by the prospect of being able to work on long-term projects and looking for big answers to big questions, he said.
The three scientists each achieved acclaim for a technique called gene targeting. Scientists can inactivate or change specific genes in mice to see how they affect health and disease. Their work has implications for diabetes, heart disease, cancer and nearly every other type of disease.
"The knockout mice technology which they developed has completely transformed the landscape of biomedical research," said Jeremy M. Berg, director of the National Institute of General Medical Sciences, in the National Institutes of Health, which has for years supported some of Capecchi's research.
"The number of the field they haven't touched is very small. Every human disease, where there are genes of interest for one reason or another, one of the first things they do is make a knockout mouse strain and see what the impact is."
The technology used has changed and become more sophisticated over the years, making the process more robust and reliable, he said.
To use this technique, researchers introduce a genetic change into mouse embryonic stem cells. These cells are then injected into mouse embryos. The mice born from these embryos are bred with others, to produce offspring with altered genes.
"Gene targeting has pervaded all fields of biomedicine. Its impact on the understanding of gene function and its benefits to mankind will continue to increase over many years to come," said the citation for the $1.54 million prize.
Capecchi's work has uncovered the roles of genes involved in organ development in mammals, the committee said. Evans has developed strains of gene-altered mice to study cystic fibrosis, and Smithies has created strains to study such conditions as high blood pressure and heart disease.
The prizes are handed out every year on Dec. 10, the anniversary of award founder Alfred Nobel's death in 1896.
Because last year's Nobel Prize in Medicine was awarded for work involving RNA, Capecchi said receiving the call was a "complete surprise." The award "usually jumps around," and he didn't expect to see another in molecular genetics.
Once he was told he'd won, he had to keep it to himself for a half-hour before he could call his daughter, Misha.
Capecchi previously won the 201 Albert Lasker Award for Basic Medical Research and the 2001 National Medal of Science, America's highest award for lifetime achievement in research. In 2003, he received Israel's highest honor, for medical research, the World Prize in Medicine, and the 2003 Pezcoller Foundation-American Association for Cancer Research International Award for Cancer Research. In 2005, he was honored with a March of Dimes Prize in Developmental Biology.
A scientist at the Eccles Institute of Human Genetics at the U. medical school, Capecchi also serves as co-chair of the Department of Human Genetics and helped found the Brain Institute at the U. He holds the Helen Lowe Bamberger Colby and John E. Bamberger Presidential Endowed Chair in the Health Sciences. He is member of the National Academy of Sciences.